BBS2 c.132T>G ;(p.N44K)

Variant ID: 16-56548578-A-C

NM_031885.3(BBS2):c.132T>G;(p.N44K)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


In search of triallelism in Bardet-Biedl syndrome.

European Journal Of Human Genetics : Ejhg
Abu-Safieh, Leen L; Al-Anazi, Shamsa S; Al-Abdi, Lama L; Hashem, Mais M; Alkuraya, Hisham H; Alamr, Mushari M; Sirelkhatim, Mugtaba O MO; Al-Hassnan, Zuhair Z; Alkuraya, Basim B; Mohamed, Jawahir Y JY; Al-Salem, Ahmad A; Alrashed, May M; Faqeih, Eissa E; Softah, Ameen A; Al-Hashem, Amal A; Wali, Sami S; Rahbeeni, Zuhair Z; Alsayed, Moeen M; Khan, Arif O AO; Al-Gazali, Lihadh L; Taschner, Peter E M PE; Al-Hazzaa, Selwa S; Alkuraya, Fowzan S FS
Publication Date: 2012-04

Variant appearance in text: BBS: 132T>G
PubMed Link: 22353939
Variant Present in the following documents:
  • Main text
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